- The PCDH19 gene is found in the X chromosome. It is responsible for making proteins called protocadherin 19, a calcium-dependent cell-adhesion protein.
- Epilepsy caused by changes in the PCDH19 gene mainly affects females. However, it can occur in males.
- Changes in the PCDH19 gene can either be de novo (new in the person with epilepsy and not inherited from a parent) or be inherited from a parent.
- This type of epilepsy is also called PCDH19 clustering epilepsy.
- Seizures usually begin around nine months of age, are frequent, cluster, and commonly triggered by fever.
- Children that develop PCDH19 epilepsy experience different types of seizures. The most common include focal impaired awareness seizures and tonic-clonic seizures.
- Autism spectrum disorder (ASD), intellectual disability, loss of muscle tone (hypotonia), and other behavioural and psychiatric conditions can have varying severity in people with PCDH19 clustering epilepsy.
- Diagnosis for PCDH19 epilepsy will require genetic testing.
Contacts and information